title: Germ-line MTHFR C677T, FV H1299R and PAI-1 5G/4G variations in breast carcinoma.
abstract: BACKGROUND
  Various oncogenes related to cancer have been extensively studied and several polymorphisms have been found to be associated with breast cancer. The current report outlines analysis of germ-line polymorphisms for C677T, A1298C (MTHFR), Leiden, R2 (FV) and 5G/4G (PAI-1) in Turkish breast cancer patients. We studied 51 cases diagnosed with invasive ductal and operable with lymph node-positive breast cancer and 106 women as a control group.
  
  
  METHODS
  Peripheric blood-DNA samples were used for genotyping by StripAssay technique which is based on the reverse-hybridization principle and real-time PCR methods and results were compared statistically.
  
  
  RESULTS
  The frequency of the MTHFR gene 677T and 1298A alleles were significantly higher in cancer patients than in the healthy subjects. The T allele frequency in codon 677 was 2.3-fold and C allele frequency was 3.1-fold increased in BC when compared to the control group for the MTHFR gene. Both differences were statistically significant (OR: 2.295, CI: 1.283-4.106), p<0.006 and (OR: 3.131, CI:1.826-5.369), p<0.0001 respectively. The R2 allele frequency of FV gene was 5.1-fold increased in the current BC when compared to the control group and that difference was also statistically significant (OR: 5.133, CI: 1.299-20.28), p<0.02.
  
  
  CONCLUSIONS
  The present data suggest that germ-line polymorphisms of C677T, C1298A for MTHFR and R2 for FV are associated in breast cancer and may be additional prognostic markers related to breast cancer survival. The results now need to be confirmed in a larger group of patients.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
authors.forename: Filiz
authors.initials: F
authors.lastname: Ozen
authors.forename: Eda
authors.initials: E
authors.lastname: Erdis
authors.forename: Ebru
authors.initials: E
authors.lastname: Sik
authors.forename: Fatma
authors.initials: F
authors.lastname: Silan
authors.forename: Ahmet
authors.initials: A
authors.lastname: Uludag
authors.forename: Ozturk
authors.initials: O
authors.lastname: Ozdemir
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics / Q000401:mortality; D001943:Breast Neoplasms / Q000235:genetics* / Q000401:mortality; D018270:Carcinoma, Ductal, Breast / Q000235:genetics / Q000401:mortality; D018275:Carcinoma, Lobular / Q000235:genetics / Q000401:mortality; D018276:Carcinoma, Medullary / Q000235:genetics / Q000401:mortality; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008207:Lymphatic Metastasis / Q000235:genetics; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D011110:Polymorphism, Genetic; D014421:Turkey
chemical_list: D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; C095381:factor V Leiden; D005165:Factor V; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)